ClinVar Miner

Submissions for variant NC_000023.10:g.(?_154379237)_(154381523_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000498131 SCV000590863 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2016-07-19 criteria provided, single submitter clinical testing complete EMD gene deletion; breakpoints unknown

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